Canonical Allele Identifier: CA497693829

Gene: ACADVL

Linked Data

• dbSNP Id: rs2142968742
• MyVariant Identifiers: chr17:g.7124260C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220941C>T , CM000679.2:g.7220941C>T	GRCh38
NC_000017.10:g.7124260C>T , CM000679.1:g.7124260C>T	GRCh37
NC_000017.9:g.7064984C>T	NCBI36
NG_007975.1:g.6108C>T
NG_008391.2:g.4110G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.360C>T MANE Select	ENSP00000349297.5:p.Ala120=
ENST00000322910.9:c.*315C>T	ENSP00000325395.5:n.*315C>T
ENST00000350303.9:c.294C>T	ENSP00000344152.5:p.Ala98=
ENST00000356839.9:c.360C>T	ENSP00000349297.5:p.Ala120=
ENST00000543245.6:c.429C>T	ENSP00000438689.2:p.Ala143=
ENST00000577191.5:n.437C>T
ENST00000577433.5:n.568C>T
ENST00000577857.5:n.293+111C>T
ENST00000579286.5:n.541C>T
ENST00000579886.2:c.202-4C>T	ENSP00000463246.1:n.202-4C>T
ENST00000580365.1:n.91C>T
ENST00000581378.5:c.59C>T
ENST00000581562.5:n.407C>T
ENST00000582056.5:n.543C>T
ENST00000582166.1:n.341C>T
ENST00000583312.5:c.360C>T	ENSP00000467920.1:p.Ala120=
ENST00000584103.5:c.393C>T	ENSP00000465353.1:p.Ala131=
NM_000018.3:c.360C>T	NP_000009.1:p.Ala120=
NM_001033859.2:c.294C>T	NP_001029031.1:p.Ala98=
NM_001270447.1:c.429C>T	NP_001257376.1:p.Ala143=
NM_001270448.1:c.132C>T	NP_001257377.1:p.Ala44=
XM_006721516.2:c.360C>T	XP_006721579.2:p.Ala120=
XM_011523829.1:c.360C>T	XP_011522131.1:p.Ala120=
XM_011523830.1:c.360C>T	XP_011522132.1:p.Ala120=
XR_934021.1:n.467C>T
XR_934022.1:n.467C>T
XR_934023.1:n.467C>T
XM_006721516.3:c.360C>T	XP_006721579.2:p.Ala120=
XM_011523829.2:c.360C>T	XP_011522131.1:p.Ala120=
XM_011523830.2:c.360C>T	XP_011522132.1:p.Ala120=
XM_024450741.1:c.360C>T	XP_024306509.1:p.Ala120=
XR_934021.2:n.419C>T
XR_934022.2:n.419C>T
XR_934023.2:n.419C>T
NM_000018.4:c.360C>T MANE Select	NP_000009.1:p.Ala120=
NM_001033859.3:c.294C>T	NP_001029031.1:p.Ala98=
NM_001270447.2:c.429C>T	NP_001257376.1:p.Ala143=
NM_001270448.2:c.132C>T	NP_001257377.1:p.Ala44=